IthaID: 1332
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 27 GCC>TCC [Ala>Ser] | HGVS Name: | HBD:c.82G>T |
| Hb Name: | Hb A2-Yialousa | Protein Info: | δ 27(B9) Ala>Ser |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GAACGTGGATGCAGTTGGTGGTGAG [G/T] CCCTGGGCAGGTTGGTATCAAGGTT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGESLGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia, δ-chain variant |
| Allele Phenotype: | δ+ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63264 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Greek, Greek Cypriot, Sardnian, Chinese, Tunisian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Moi P, Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, Cao A, Pirastu M, Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia., Blood, 72(2), 530-3, 1988
- Loudianos G, Cao A, Ristaldi MS, Pirastu M, Tzeti M, Kannavakis E, Kattamis C, Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level., Blood , 75(2), 526-8, 1990
- Trifillis P, Ioannou P, Schwartz E, Surrey S, Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis., Blood, 78(12), 3298-305, 1991
- Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S, Analysis of delta-globin gene mutations in Greek cypriots., Blood, 82(5), 1647-51, 1993
- De Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C, Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features., Human mutation, 20(5), 358-67, 2002
- Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
- Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A, Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations., Mol Biol Rep, 48(8), 5923-5933, 2021
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-12-29 15:11:08 (Show full history)
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